المؤلفون: Rodriguez-Palmero, A, Boerrigter, MM, Gomez-Andres, D, Aldinger, KA, Marcos-Alcalde, I, Popp, B, Everman, DB, Lovgren, AK, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, AM, Bjerregaard, VA, Bruel, AL, Challman, TD, Cogne, B, Coubes, C, de Man, SA, Denomme-Pichon, AS, Dye, TJ, Elmslie, F, Feuk, L, Garcia-Minaur, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, TB, Haldeman-Englert, CR, Haukanes, BI, Hoyer, J, Hurst, ACE, Isidor, B, Soller, MJ, Kushary, S, Kvarnung, M, Landau, YE, Leppig, KA, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, BA, Moghadasi, S, Morton, JE, Moutton, S, Muuller, AJ, O'Leary, M, Pacio-Miguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, MJ, Ruivenkamp, CAL, Sarrazin, E, Savatt, JM, Schluter, A, Schonewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, JT, Shohat, M, Spranger, S, Thiese, H, Mau-Them, FT, van Bon, B, van de Burgt, I, van de Laar, IMBH, van Drie, E, van Haelst, MM, van Ravenswaaij-Arts, CM, Verdura, E, Vitobello, A, Waldmuller, S, Whiting, S, Zweier, C, Prada, CE, de Vries, BBA, Dobyns, WB, Reiter, SF, Gomez-Puertas, P, Pujol, A, Tumer, Z

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 23(5):888-899

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:145879815Test

المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079Test

المؤلفون: Tolonen, JP, Parolin Schnekenberg, R, McGowan, S, Sims, D, McEntagart, M, Elmslie, F, Shears, D, Stewart, H, Tofaris, GK, Dabir, T, Morrison, PJ, Johnson, D, Hadjivassiliou, M, Ellard, S, Shaw-Smith, C, Znaczko, A, Dixit, A, Suri, M, Sarkar, A, Harrison, RE, Jones, G, Houlden, H, Ceravolo, G, Jarvis, J, Williams, J, Shanks, ME, Clouston, P, Rankin, J, Blumkin, L, Lerman-Sagie, T, Ponger, P, Raskin, S, Granath, K, Uusimaa, J, Conti, H, McCann, E, Joss, S, Blakes, AJM, Metcalfe, K, Kingston, H, Bertoli, M, Kneen, R, Lynch, SA, Martínez Albaladejo, I, Moore, AP, Jones, WD, Genomics England Research Consortium, Becker, EBE, Németh, AH

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docxTest; https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docxTest; Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; et al. Tolonen, JP; Parolin Schnekenberg, R; McGowan, S; Sims, D; McEntagart, M; Elmslie, F; Shears, D; Stewart, H; Tofaris, GK; Dabir, T; Morrison, PJ; Johnson, D; Hadjivassiliou, M; Ellard, S; Shaw-Smith, C; Znaczko, A; Dixit, A; Suri, M; Sarkar, A; Harrison, RE; Jones, G; Houlden, H; Ceravolo, G; Jarvis, J; Williams, J; Shanks, ME; Clouston, P; Rankin, J; Blumkin, L; Lerman-Sagie, T; Ponger, P; Raskin, S; Granath, K; Uusimaa, J; Conti, H; McCann, E; Joss, S; Blakes, AJM; Metcalfe, K; Kingston, H; Bertoli, M; Kneen, R; Lynch, SA; Martínez Albaladejo, I; Moore, AP; Jones, WD; Genomics England Research Consortium; Becker, EBE; Németh, AH (2024) Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design. Mov Disord, 39 (1). pp. 141-151. ISSN 1531-8257 https://doi.org/10.1002/mds.29651Test SGUL Authors: Elmslie, Frances

الإتاحة: https://doi.org/10.1002/mds.29651Test
https://openaccess.sgul.ac.uk/id/eprint/116007Test/
https://openaccess.sgul.ac.uk/id/eprint/116007/1/Movement%20Disorders%20-%202023%20-%20Tolonen%20-%20Detailed%20Analysis%20of%20ITPR1%20Missense%20Variants%20Guides%20Diagnostics%20and%20Therapeutic.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/116007/6/mds29651-sup-0001-figures.docxTest
https://openaccess.sgul.ac.uk/id/eprint/116007/8/mds29651-sup-0002-tables.docxTest

المؤلفون: Durkie, M., Watson, C.M., Winship, P., Hogg, A.-C., Nyanhete, R., Cooley, S., Valluru, M.K., Shaw-Smith, C., Bingham, C., Gilchrist, M., Kenny, J., Consortium, G.E.R., Ong, A.C.M.

المساهمون: Oetting, W.

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/202197/1/5597005.pdfTest; Durkie, M., Watson, C.M. orcid.org/0000-0003-2371-1844 , Winship, P. et al. (10 more authors) (2023) The common PKD1 p.(Ile3167Phe) variant is hypomorphic and associated with very early onset, biallelic polycystic kidney disease. Human Mutation, 2023. 5597005. ISSN 1059-7794

الإتاحة: https://eprints.whiterose.ac.uk/202197Test/
https://eprints.whiterose.ac.uk/202197/1/5597005.pdfTest

المؤلفون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B. B., Wenzel A., Tory K., Haeffner K., Wolf M. T. F., Bleyer M. E., Sayer J. A., Ong A. C. M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R. M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L. R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A. J.

المساهمون: Zivna M., Kidd K., Zaidan M., Vyletal P., Baresova V., Hodanova K., Sovova J., Hartmannova H., Votruba M., Treslova H., Jedlickova I., Sikora J., Hulkova H., Robins V., Hnizda A., Zivny J., Papagregoriou G., Mesnard L., Beck B.B., Wenzel A., Tory K., Haeffner K., Wolf M.T.F., Bleyer M.E., Sayer J.A., Ong A.C.M., Balogh L., Jakubowska A., Laszkiewicz A., Clissold R., Shaw-Smith C., Munshi R., Haws R.M., Izzi C., Capelli I., Santostefano M., Graziano C., Scolari F., Sussman A., Trachtman H., Decramer S., Matignon M., Grimbert P., Shoemaker L.R., Stavrou C., Abdelwahed M., Belghith N., Sinclair M., Claes K., Kopel T., Moe S., Deltas C., Knebelmann B., Rampoldi L., Kmoch S., Bleyer A.J.

مصطلحات موضوعية: autosomal dominant tubulointerstitial kidney disease, characterization, mutation, prosegment, renin, signal peptide

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32750457; info:eu-repo/semantics/altIdentifier/wos/WOS:000596506000030; volume:98; issue:6; firstpage:1589; lastpage:1604; numberofpages:16; journal:KIDNEY INTERNATIONAL; https://hdl.handle.net/11585/963228Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097369366; https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test; https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract

الإتاحة: https://doi.org/10.1016/j.kint.2020.06.041Test
https://hdl.handle.net/11585/963228Test
https://www.sciencedirect.com/science/article/abs/pii/S0085253820308383Test
https://www.kidney-international.org/article/S0085-2538Test(20)30838-3/abstract

المؤلفون: Martin, HC, Gardner, EJ, Samocha, KE, Kaplanis, J, Akawi, N, Sifrim, A, Eberhardt, RY, Tavares, ALT, Neville, MDC, Niemi, MEK, Gallone, G, McRae, J, Borras, S, Clark, C, Dean, J, Miedzybrodzka, Z, Ross, A, Tennant, S, Dabir, T, Donnelly, D, Humphreys, M, Magee, A, McConnell, V, McKee, S, McNerlan, S, Morrison, PJ, Rea, G, Stewart, F, Cole, T, Cooper, N, Cooper-Charles, L, Cox, H, Islam, L, Jarvis, J, Keelagher, R, Lim, D, McMullan, D, Morton, J, Naik, S, O’Driscoll, M, Ong, KR, Osio, D, Ragge, N, Turton, S, Vogt, J, Williams, D, Bodek, S, Donaldson, A, Hills, A, Low, K, Newbury-Ecob, R, Norman, AM, Roberts, E, Scurr, I, Smithson, S, Tooley, M, Abbs, S, Armstrong, R, Dunn, C, Holden, S, Park, SM, Paterson, J, Raymond, L, Reid, E, Sandford, R, Simonic, I, Tischkowitz, M, Woods, G, Bradley, L, Comerford, J, Green, A, Lynch, S, McQuaid, S, Mullaney, B, Berg, J, Goudie, D, Mavrak, E, McLean, J, McWilliam, C, Reavey, E, Azam, T, Cleary, E, Jackson, A, Lam, W, Lampe, A, Moore, D, Porteous, M, Baple, E, Baptista, J, Brewer, C, Castle, B, Kivuva, E, Owens, M, Rankin, J, Shaw-Smith, C, Turner, C, Turnpenny, P, Tysoe, C, Bradley, T, Davidson, R

المصدر: Nature Communications , 12 (1) , Article 627. (2021) (In press).

مصطلحات موضوعية: Genetic association study, Medical genetics, Neurodevelopmental disorders

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10121927Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10121927Test/

المؤلفون: Mulder, P. A., van Balkom, I. D. C., Landlust, A. M., Priolo, M., Menke, L. A., Acero, I. H., Alkuraya, F. S., Arias, P., Bernardini, L., Bijlsma, E. K., Cole, T., Coubes, C., Dapia, I., Davies, S., Di Donato, N., Elcioglu, N. H., Fahrner, J. A., Foster, A., Gonzalez, N. G., Huber, I., Iascone, M., Kaiser, A. -S., Kamath, A., Kooblall, K., Lapunzina, P., Liebelt, J., Lynch, S. A., Maas, S. M., Mammi, C., Mathijssen, I. B., McKee, S., Mirzaa, G. M., Montgomery, T., Neubauer, D., Neumann, T. E., Pintomalli, L., Pisanti, M. A., Plomp, A. S., Price, S., Salter, C., Santos-Simarro, F., Sarda, P., Schanze, D., Segovia, M., Shaw-Smith, C., Smithson, S., Suri, M., Tatton-Brown, K., Tenorio, J., Piening, S.

المصدر: Mulder , P A , van Balkom , I D C , Landlust , A M , Priolo , M , Menke , L A , Acero , I H , Alkuraya , F S , Arias , P , Bernardini , L , Bijlsma , E K , Cole , T , Coubes , C , Dapia , I , Davies , S , Di Donato , N , Elcioglu , N H , Fahrner , J A , Foster , A , Gonzalez , N G , Huber , I , Iascone , M , Kaiser , ....

مصطلحات موضوعية: adaptive behaviour, cognition, Malan syndrome, Marshall-Smith syndrome, NFIXvariants, sensory processing, AUTISTIC DISORDER, SOTOS-LIKE, CHILDREN, PATTERNS, ADULTS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test

الإتاحة: https://doi.org/10.1111/jir.12787Test
https://hdl.handle.net/11370/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://research.rug.nl/en/publications/c823bd39-7c28-4564-aa84-37dc5e33eac4Test
https://pure.rug.nl/ws/files/169311508/jir.12787.pdfTest

المؤلفون: Aitken, Stuart, Firth, Helen V., McRae, Jeremy, Halachev, Mihail, Kini, Usha, Parker, Michael J., Lees, Melissa M., Lachlan, Katherine, Sarkar, Ajoy, Joss, Shelagh, Splitt, Miranda, McKee, Shane, Németh, Andrea H., Scott, Richard H., Wright, Caroline F., Marsh, Joseph A., Hurles, Matthew E., FitzPatrick, David R., Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Barelle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D’Alessandro, P.M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L. Gomes, Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O’Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Proctor, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweiger, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Sharif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E.

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/211991/1/211991.pdfTest; Aitken, S. et al. (2019) Finding diagnostically useful patterns in quantitative phenotypic data. American Journal of Human Genetics , 105(5), pp. 933-946. (doi:10.1016/j.ajhg.2019.09.015 ) (PMID:31607427)

الإتاحة: https://doi.org/10.1016/j.ajhg.2019.09.015Test
http://eprints.gla.ac.uk/211991Test/
http://eprints.gla.ac.uk/211991/1/211991.pdfTest

المؤلفون: Aitken, S, Firth, HV, McRae, J, Halachev, M, Kini, U, Parker, MJ, Lees, MM, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, AH, Scott, RH, Wright, CF, Marsh, JA, Hurles, ME, FitzPatrick, DR, Fitzgerald, TW, Gerety, SS, Jones, WD, van Kogelenberg, M, King, DA, Morley, KI, Parthiban, V, Al-Turki, S, Ambridge, K, Barrett, DM, Bayzetinova, T, Clayton, S, Coomber, EL, Gribble, S, Jones, P, Krishnappa, N, Mason, LE, Middleton, A, Miller, R, Prigmore, E, Rajan, D, Sifrim, A, Tivey, AR, Ahmed, M, Akawi, N, Andrews, R, Anjum, U, Archer, H, Armstrong, R, Balasubramanian, M, Banerjee, R, Barelle, D, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Brady, A, Bragin, E, Brewer, C, Brueton, L, Brunstrom, K, Bumpstead, SJ, Bunyan, DJ, Burn, J, Burton, J, Canham, N, Castle, B, Chandler, K, Clasper, S, Clayton-Smith, J, Cole, T, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cox, H, Cresswell, L, Cross, G, Crow, Y, D’Alessandro, PM, Dabir, T, Davidson, R, Davies, S, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dominiczak, A, Donnelly, C, Donnelly, D, Douglas, A, Duncan, A, Eason, J, Edkins, S, Ellard, S, Ellis, P, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Fu, B, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Pereira, SLG, Goodship, J, Goudie, D, Gray, E, Greene, P, Greenhalgh, L, Harrison, L, Hawkins, R, Hellens, S, Henderson, A, Hobson, E, Holden, S, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Ingram, S, Irving, M, Jarvis, J, Jenkins, L, Johnson, D, Jones, D, Jones, E, Josifova, D, Kaemba, B, Kazembe, S, Kerr, B, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Lowther, G, Lynch, SA, Magee, A, Maher, E, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, McKay, K, McMullan, DJ, McNerlan, S, Mehta, S, Metcalfe, K, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morris, A, Morton, J, Mugalaasi, H, Murday, V, Nevitt, L, Newbury-Ecob, R, Norman, A, O’Shea, R, Ogilvie, C, Park, S, Patel, C, Paterson, J, Payne, S, Phipps, J, Pilz, DT, Porteous, D, Pratt, N, Prescott, K, Price, S, Pridham, A, Proctor, A, Purnell, H, Ragge, N, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, G, Roberts, J, Roberts, P, Ross, A, Rosser, E, Saggar, A, Samant, S, Sandford, R, Schweiger, S, Scott, C, Scott, R, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Simonic, I, Simpkin, D, Singzon, R, Skitt, Z, Smith, A, Smith, B, Smith, K, Smithson, S, Sneddon, L, Squires, M, Stewart, F, Stewart, H, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tolmie, J, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Vasudevan, P, Vogt, J, Wakeling, E, Walker, D, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Williams, D, Williams, N, Woods, G, Wragg, C, Wright, M, Yang, F, Yau, M, Carter, NP, Parker, M, Barrett, JC

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdfTest; Aitken, S, Firth, HV, McRae, J et al. (280 more authors) (2019) Finding diagnostically useful patterns in quantitative phenotypic data. The American Journal of Human Genetics, 105 (5). pp. 933-946. ISSN 0002-9297

الإتاحة: https://eprints.whiterose.ac.uk/164184Test/
https://eprints.whiterose.ac.uk/164184/1/Finding%20Diagnostically%20Useful%20Patterns%20in%20Quantitative%20Phenotypic%20Data.pdfTest

المؤلفون: Verheije, R., Kupchik, G.S., Isidor, B., Kroes, H.Y., Lynch, S.A., Hawkes, L., Hempel, M., Gelb, B.D., Ghoumid, J., D’Amours, G., Chandler, K., Dubourg, C., Loddo, S., Tümer, Z., Shaw-Smith, C., Nizon, M., Shevell, M., Van Hoof, E., Anyane-Yeboa, K., Cerbone, G., Clayton-Smith, J., Cogné, B., Corre, P., Corveleyn, A., De Borre, M., Hjortshøj, T.D., Fradin, M., Gewillig, M., Goldmuntz, E., Hens, G., Lemyre, E., Journel, H., Kini, U., Kortüm, F., Le Caignec, C., Novelli, A., Odent, S., Petit, F., Revah-Politi, A., Stong, N., Strom, T.M., van Binsbergen, E., DDD Study, Devriendt, K., Breckpot, J.

المصدر: Eur. J. Hum. Genet. 27, 278-290 (2019)

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30291340; info:eu-repo/semantics/altIdentifier/wos/WOS:000455983900013; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514Test; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438

الإتاحة: https://doi.org/10.1038/s41431-018-0281-5Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=54514Test